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    XIST X inactive specific transcript (non-protein coding) [ Homo sapiens (human) ]

    Gene ID: 7503, updated on 19-Nov-2017
    Official Symbol
    XISTprovided by HGNC
    Official Full Name
    X inactive specific transcript (non-protein coding)provided by HGNC
    Primary source
    HGNC:HGNC:12810
    See related
    Ensembl:ENSG00000229807 MIM:314670
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SXI1; swd66; DXS1089; DXS399E; LINC00001; NCRNA00001
    Summary
    X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]
    Expression
    Broad expression in thyroid (RPKM 59.4), ovary (RPKM 51.4) and 20 other tissues See more
    Location:
    Xq13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (73820651..73852753, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73040486..73072588, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 4 pseudogene 1 Neighboring gene cysteine rich hydrophobic domain 1 Neighboring gene selenophosphate synthetase 1 pseudogene 4 Neighboring gene TSIX transcript, XIST antisense RNA Neighboring gene FXYD domain containing ion transport regulator 6 pseudogene 3 Neighboring gene JPX transcript, XIST activator (non-protein coding) Neighboring gene ribosomal protein SA pseudogene 14 Neighboring gene FTX transcript, XIST regulator (non-protein coding)

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    X inactivation, familial skewed, 1
    MedGen: C1848138 OMIM: 300087 GeneReviews: Not available
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    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-20)

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Other Names

    • long intergenic non-protein coding RNA 1

    Clone Names

    • DKFZp779P0129

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016172.1 RefSeqGene

      Range
      5001..37103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_001564.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AI640908, AL353804, BX648323
      Related
      ENST00000429829.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      73820651..73852753 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      72933265..72965330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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